Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Dual serine/threonine and tyrosine protein kinase

The protein encoded by the DSTYK gene plays an important role in signal transduction during development, so it comes as no surprise that mutations are responsible for autosomal dominant kidney and urinary tract malformations.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Renal hypodysplasia/aplasia 1
DSTYK
ITGA8
PAX2
RET
UPK3A
Congenital anomalies of kidney and urinary tract 1
DSTYK

References:

1.

Zha J et al. (2004) RIP5 is a RIP-homologous inducer of cell death.

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2.

Sanna-Cherchi S et. al. (2013) Mutations in DSTYK and Dominant Urinary Tract Malformations.

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3.

Seki N et al. (1997) Characterization of cDNA clones in size-fractionated cDNA libraries from human brain.

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Update: Sept. 26, 2018